All publications of “Claudia Mac Donald Bley Nascimento”

2 results

Consensus on the investigation of thrombophilia in women and clinical management

Claudia Mac Donald Bley Nascimento ORCID logo , Andréa Maria Novaes Machado ORCID logo , João Carlos de Campos Guerra ORCID logo , Eduardo Zlotnik ORCID logo , Dirceu Hamilton Cordeiro Campêlo ORCID logo , Paulo Kauffman ORCID logo , [...]

DOI: 10.31744/einstein_journal/2019AE4510

ABSTRACT Objective To standardize the investigation and clinical management of women with laboratory and/or clinical abnormalities suggestive of thrombophilia, in order to optimize antithrombotic approach and indication of laboratory tests. Methodology A discussion was carried out among 107 physicians (gynecologists/obstetricians, hematologists and vascular surgeons) present at a forum held at the Hospital Israelita Albert Einstein, in São Paulo (SP), Brazil. As a minimum criterion, 80% agreement was established in the voting to each recommendation of conduct in the final document. […]

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, [...]

DOI: 10.1590/S1679-45082017RC4006

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this […]